MYRF is associated with encephalopathy with reversible myelin vacuolization

scientific article published on 19 December 2017

MYRF is associated with encephalopathy with reversible myelin vacuolization is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/ANA.25125
P698PubMed publication ID29265453

P50authorMasashi MizuguchiQ61213652
Kinji OhnoQ37370712
P2093author name stringAkio Masuda
Toshiaki Shimizu
Tatsuya Okuno
Makiko Saitoh
Akihisa Okumura
Hirokazu Kurahashi
Yoshiteru Azuma
Eri Nakahara
Takuji Imamura
P2860cites workRecurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.Q53084843
MYRF is a membrane-associated transcription factor that autoproteolytically cleaves to directly activate myelin genesQ21090170
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autismQ24297559
Connexin mutations in X-linked Charcot-Marie-Tooth diseaseQ24323296
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencingQ24628978
Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
Myelin gene regulatory factor is a critical transcriptional regulator required for CNS myelinationQ24657511
BLAT—The BLAST-Like Alignment ToolQ24682492
Analysis of protein-coding genetic variation in 60,706 humansQ26831376
Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNSQ28274507
A Bacteriophage tailspike domain promotes self-cleavage of a human membrane-bound transcription factor, the myelin regulatory factor MYRFQ28535280
Gateways to the FANTOM5 promoter level mammalian expression atlasQ28651260
The Genotype-Tissue Expression (GTEx) projectQ28657968
Rapid production of new oligodendrocytes is required in the earliest stages of motor-skill learningQ30806734
Clinically mild encephalitis/encephalopathy with a reversible splenial lesionQ30976855
The transcription factors Sox10 and Myrf define an essential regulatory network module in differentiating oligodendrocytesQ32874749
Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS?Q33521398
Gap junctions: new tools, new answers, new questionsQ34778703
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVsQ36576476
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasisQ38053267
Callosal lesions and delirious behavior during febrile illnessQ40413863
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter.Q48120380
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problemQ48122134
Expanding the spectrum of MERS type 2 lesions, a particular form of encephalitisQ48200820
Differences in the time course of splenial and white matter lesions in clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS).Q48269742
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutationQ48329111
Motor skill learning requires active central myelination.Q48482406
P577publication date2017-12-19
P1433published inAnnals of NeurologyQ564414
P1476titleMYRF is associated with encephalopathy with reversible myelin vacuolization

Reverse relations

cites work (P2860)
Q60907127De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
Q91239785Elucidating the transactivation domain of the pleiotropic transcription factor Myrf
Q92824099Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects
Q92575313Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.
Q64885738Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

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